Stimulated by the HGVS, standards have been developed regarding the description of sequence variants, the so called HGVS recommendations for the description of sequence variants (“Mutation nomenclature”). Over time, these recommendations have developed into a standard that is used world-wide, esp. in the field of human genetics. Questions regarding the current recommendations and requests for modifications and extensions directed at the HGVS are currently collected, answered and discussed by Johan den Dunnen, using the HGVS website (http://www.hgvs.org/mutnomen). Final decisions on specific topics are made a bit ad-hoc, based on community opinions, gathered through the website and discussed at meetings of the HGVS and HVP. What is highly desired is a committee of experts that meets regularly to discuss the topics raised and together make a more official decision.
- Sequence variant description committee AP04-2012
- AP04: Sequence Variant Description Committee - ICO Comments PP-ICO-09-2012
- WG04-2012-Sequence variant descriptions - Charter ISAC14-2013
Working Group Members
Johan den Dunnen, Chair